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Article

Congenital deficiency of a 20-kDa subunit of mitochondrial complex I in fibroblasts.

American journal of human genetics - 1 Jun 1991

Slipetz D M, Goodyer P R, Rozen R

Abstract excerpt

The first component of the mitochondrial electron-transport chain is especially complex, consisting of 19 nuclear and seven mitochondrion-encoded subunits. Accordingly, a wide range of clinical manifestations are produced by the various mutations occurring in human populations. In this study, we analyze the subunit structure of complex I in fibroblasts from two patients who have distinct clinical phenotypes...

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PMID: 1903590
PMCID: PMC1683088

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PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 7 Sept 2026. Manifest publication-graph-cohort-2026-09-08.1.

Source receipt: pubmed, retrieved 7 Sept 2026.

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